LOCUS       NM_001177316            2016 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens solute carrier family 34 member 3 (SLC34A3),
            transcript variant 1, mRNA.
ACCESSION   NM_001177316
VERSION     NM_001177316.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2016)
  AUTHORS   Sadeghi-Alavijeh,O., Chan,M.M.Y., Moochhala,S.H., Howles,S.,
            Gale,D.P. and Bockenhauer,D.
  CONSRTM   Genomics England Research Consortium
  TITLE     Rare variants in the sodium-dependent phosphate transporter gene
            SLC34A3 explain missing heritability of urinary stone disease
  JOURNAL   Kidney Int 104 (5), 975-984 (2023)
   PUBMED   37414395
  REMARK    GeneRIF: Rare variants in the sodium-dependent phosphate
            transporter gene SLC34A3 explain missing heritability of urinary
            stone disease.
REFERENCE   2  (bases 1 to 2016)
  AUTHORS   Brazier,F., Courbebaisse,M., David,A., Bergerat,D., Leroy,C.,
            Lindner,M., Maruani,G., Saint Jacques,C., Letavernier,E.,
            Hureaux,M., Vargas-Poussou,R. and Prie,D.
  TITLE     Relationship between clinical phenotype and in vitro analysis of 13
            NPT2c/SCL34A3 mutants
  JOURNAL   Sci Rep 13 (1), 85 (2023)
   PUBMED   36596813
  REMARK    GeneRIF: Relationship between clinical phenotype and in vitro
            analysis of 13 NPT2c/SCL34A3 mutants.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2016)
  AUTHORS   Jiang,Y., Li,X., Feng,J., Li,M., Wang,O., Xing,X.P. and Xia,W.B.
  TITLE     The genetic polymorphisms of XPR1 and SCL34A3 are associated with
            Fanconi syndrome in Chinese patients of tumor-induced osteomalacia
  JOURNAL   J Endocrinol Invest 44 (4), 773-780 (2021)
   PUBMED   32725396
  REMARK    GeneRIF: The genetic polymorphisms of XPR1 and SCL34A3 are
            associated with Fanconi syndrome in Chinese patients of
            tumor-induced osteomalacia.
REFERENCE   4  (bases 1 to 2016)
  AUTHORS   Gordon,R.J., Li,D., Doyle,D., Zaritsky,J. and Levine,M.A.
  TITLE     Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause
            Dominant Hypophosphatemic Rickets with Hypercalciuria
  JOURNAL   J Clin Endocrinol Metab 105 (7), 2392-2400 (2020)
   PUBMED   32311027
  REMARK    GeneRIF: Digenic Heterozygous Mutations in SLC34A3 and SLC34A1
            Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
REFERENCE   5  (bases 1 to 2016)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2016)
  AUTHORS   Forster,I.C., Hernando,N., Biber,J. and Murer,H.
  TITLE     Proximal tubular handling of phosphate: A molecular perspective
  JOURNAL   Kidney Int 70 (9), 1548-1559 (2006)
   PUBMED   16955105
  REMARK    GeneRIF: Therefore, understanding the mechanisms that control the
            apical expression of NaPi-IIa and NaPi-IIc as well as their
            functional properties is critical to understanding how an organism
            achieves P i homeostasis.
            Review article
REFERENCE   7  (bases 1 to 2016)
  AUTHORS   Lorenz-Depiereux,B., Benet-Pages,A., Eckstein,G.,
            Tenenbaum-Rakover,Y., Wagenstaller,J., Tiosano,D.,
            Gershoni-Baruch,R., Albers,N., Lichtner,P., Schnabel,D.,
            Hochberg,Z. and Strom,T.M.
  TITLE     Hereditary hypophosphatemic rickets with hypercalciuria is caused
            by mutations in the sodium-phosphate cotransporter gene SLC34A3
  JOURNAL   Am J Hum Genet 78 (2), 193-201 (2006)
   PUBMED   16358215
  REMARK    GeneRIF: Loss of function of the SLC34A3 protein presumably results
            in a primary renal tubular defect and is compatible with the
            hereditary hypophosphatemic rickets with hypercalciuria phenotype.
REFERENCE   8  (bases 1 to 2016)
  AUTHORS   Bergwitz,C., Roslin,N.M., Tieder,M., Loredo-Osti,J.C., Bastepe,M.,
            Abu-Zahra,H., Frappier,D., Burkett,K., Carpenter,T.O., Anderson,D.,
            Garabedian,M., Sermet,I., Fujiwara,T.M., Morgan,K., Tenenhouse,H.S.
            and Juppner,H.
  TITLE     SLC34A3 mutations in patients with hereditary hypophosphatemic
            rickets with hypercalciuria predict a key role for the
            sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate
            homeostasis
  JOURNAL   Am J Hum Genet 78 (2), 179-192 (2006)
   PUBMED   16358214
  REMARK    GeneRIF: NaP(i)-IIc has a key role in the regulation of phosphate
            homeostasis.
REFERENCE   9  (bases 1 to 2016)
  AUTHORS   Ehnes,C., Forster,I.C., Bacconi,A., Kohler,K., Biber,J. and
            Murer,H.
  TITLE     Structure-function relations of the first and fourth extracellular
            linkers of the type IIa Na+/Pi cotransporter: II. Substrate
            interaction and voltage dependency of two functionally important
            sites
  JOURNAL   J Gen Physiol 124 (5), 489-503 (2004)
   PUBMED   15504899
  REMARK    GeneRIF: Functionally important sites in the predicted first and
            fourth extracellular linkers of the type IIa Na+/Pi cotransporter
            (NaPi-IIa) were identified by cysteine scanning mutagenesis (Ehnes
            et al., 2004).
REFERENCE   10 (bases 1 to 2016)
  AUTHORS   Segawa,H., Kaneko,I., Takahashi,A., Kuwahata,M., Ito,M., Ohkido,I.,
            Tatsumi,S. and Miyamoto,K.
  TITLE     Growth-related renal type II Na/Pi cotransporter
  JOURNAL   J Biol Chem 277 (22), 19665-19672 (2002)
   PUBMED   11880379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029942.1, AB055000.1 and
            BX255925.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 31, 2019 this sequence version replaced NM_001177316.1.
            
            Summary: This gene encodes a member of SLC34A transporter family of
            proteins, and is expressed primarily in the kidney. It is involved
            in transporting phosphate into cells via sodium cotransport in the
            renal brush border membrane, and contributes to the maintenance of
            inorganic phosphate concentration in the kidney. Mutations in this
            gene are associated with hereditary hypophosphatemic rickets with
            hypercalciuria. Alternatively spliced transcript variants varying
            in the 5' UTR have been found for this gene.[provided by RefSeq,
            Apr 2010].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1-3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB055000.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000673835.1/ ENSP00000501114.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                BC029942.1         145-182
            39-1614             AB055000.1         32-1607
            1615-1615           BX255925.17        31534-31534
            1616-2015           AB055000.1         1609-2008
            2016-2016           BX255925.17        31935-31935
FEATURES             Location/Qualifiers
     source          1..2016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2016
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /note="solute carrier family 34 member 3"
                     /db_xref="GeneID:142680"
                     /db_xref="HGNC:HGNC:20305"
                     /db_xref="MIM:609826"
     exon            1..38
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            39..162
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1877
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /note="type IIc Na+/Pi cotransporter; solute carrier
                     family 34 (type II sodium/phosphate cotransporter), member
                     3; naPi-2c; sodium-phosphate transport protein 2C;
                     sodium/inorganic phosphate cotransporter IIC; Na(+)/Pi
                     cotransporter 2C; Na(+)-dependent phosphate cotransporter
                     2C; solute carrier family 34 (sodium phosphate), member 3"
                     /codon_start=1
                     /product="sodium-dependent phosphate transport protein 2C"
                     /protein_id="NP_001170787.2"
                     /db_xref="CCDS:CCDS7038.1"
                     /db_xref="GeneID:142680"
                     /db_xref="HGNC:HGNC:20305"
                     /db_xref="MIM:609826"
                     /translation="MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDP
                     WTLPQLKDTSQPWKELRVAGRLRRVAGSVLKACGLLGSLYFFICSLDVLSSAFQLLGS
                     KVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPII
                     MGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLER
                     LSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWC
                     GTTGQPTQENSSCGAFGPCTEKNSTAPADRLPCRHLFAGTELTDLAVGCILLAGSLLV
                     LCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSS
                     SVFTAAVVPLMGVGVISLDRAYPLLLGSNIGTTTTALLAALASPADRMLSALQVALIH
                     FFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSL
                     AGGMELAAVGGPLVGLVLLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLEPWDRLV
                     TRCCPCNVCSPPKATTKEAYCYENPEILASQQL"
     exon            163..252
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            253..381
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            382..525
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            526..637
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            638..833
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            834..923
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1002
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1170
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1287
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1412
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..2016
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1994..1999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /note="hexamer: AATAAA"
     polyA_site      2016
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /note="major polyA site"
ORIGIN      
        1 gtctcctccc tgcaggtgcc ccctcaccac ccacacagat ctagacctgg gcctgggtct
       61 gtccctgccc gaaatccatg ccgagttccc ttcccggcag ccaggtcccc caccccactc
      121 tggacgcggt tgacctagtg gaaaagactc tgaggaatga agggacctcc agttctgctc
      181 cagtcttgga ggaaggggac acagacccct ggaccctccc tcagctgaag gacacaagcc
      241 agccctggaa agagctccgc gtggccggca ggctgcgccg cgtggccggc agcgtcctca
      301 aggcctgcgg gctcctcggc agcctgtact tcttcatctg ctctctggac gtcctcagct
      361 ccgccttcca gctgctgggc agcaaagtgg ccggagacat cttcaaggac aacgtggtgc
      421 tgtccaaccc tgtggctgga ctggtcattg gcgtgctggt cacagccctg gtgcagagtt
      481 ccagcacgtc ctcctccatc gtggtcagca tggtggctgc taagctgctg actgtccggg
      541 tgtctgtgcc catcatcatg ggtgtcaacg taggcacatc catcaccagc accctggtct
      601 caatggcgca gtcaggggac cgggatgaat ttcagagggc tttcagcggc tcggcggtgc
      661 acgggatctt caactggctc acagtgctgg tcctgctgcc actggagagc gccacggccc
      721 tgctggagag gctaagtgag ctagccctgg gtgccgccag cctgacaccc agggcgcagg
      781 cgcccgacat cctcaaggtg ctgacgaagc cgctcacaca cctcatcgtg cagttggact
      841 ccgacatgat catgagcagt gccacaggca acgccactaa cagcagtctc attaagcact
      901 ggtgcggcac cacggggcag ccgacccagg agaacagcag ctgtggcgcc ttcggcccgt
      961 gcacagagaa gaacagcaca gccccggcgg acaggctgcc ctgccgccac ctgtttgcgg
     1021 gcacggagct cacggacctg gccgtgggct gcatcctgct ggccggctcc ctgctggtgc
     1081 tctgcggctg cctggtcctc atagtcaagc tgctcaactc tgtgctgcgc ggccgcgtgg
     1141 cccaggtcgt gaggacagtc atcaatgcgg acttcccctt cccgctgggc tggctcggcg
     1201 gctacctggc cgtcctcgcg ggcgccggcc tgaccttcgc actgcagagc agcagcgtct
     1261 tcacggcggc cgtcgtgccc ctcatggggg tcggggtgat cagtctggac cgggcgtacc
     1321 ccctcttact gggctccaac atcggcacca ctaccacagc cctgctggct gccctggcca
     1381 gccccgcaga caggatgctc agcgccctgc aggtcgccct catccacttc ttcttcaacc
     1441 tggccggcat cctgctgtgg tacctggtgc ctgcactgcg gctgcccatc ccgctggcca
     1501 ggcacttcgg ggtggtgacc gcccgttacc gctgggtggc tggggtctac ctgctgctcg
     1561 gattcctgct gctgcccctg gcggccttcg ggctctccct ggcagggggc atggagctgg
     1621 ccgctgtcgg gggtcccctg gtggggctgg tgctcctcgt catcctggtt actgtcctgc
     1681 agcggcgccg gccggcctgg ctgcctgtcc gcctgcgctc ctgggcctgg ctccccgtct
     1741 ggctccattc tctggagccc tgggaccgcc tggtgacccg ctgctgcccc tgcaacgtct
     1801 gcagcccccc gaaggccacc accaaagagg cctactgcta cgagaaccct gagatcttgg
     1861 cctcccagca gttgtgacgg gcagttgctg agcagaccgc cccaccctcc ccggctggga
     1921 gggctctgga gggccctgga gggggggtcc ccgcggcagc tgacctccgg tcacctgctt
     1981 ccccttctgt gcaaataaac caggctgtta tctggg
//
